ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro) rs1791967656 0.00001
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
NM_000492.4(CFTR):c.1622T>C (p.Leu541Pro)
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1652G>T (p.Gly551Val) rs75527207
NM_000492.4(CFTR):c.1652del (p.Gly551fs) rs397508252
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys) rs76554633
NM_000492.4(CFTR):c.1663A>T (p.Arg555Ter)
NM_000492.4(CFTR):c.1672_1673del (p.Leu558fs)
NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610

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